T45N (p.Thr45Asn) variant of ACAN (Aggrecan core protein)
T45N (p.Thr45Asn) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T45N (p.Thr45Asn) variant details
- p.Thr45Asn
- rs759354442
- ClinGen CA7719152
- ClinVar RCV003063090
- ExAC rs759354442
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available